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目的研究SCN1A基因Exon7-21C>T多态位点在全面性癫痫伴热性惊厥附加症患者中的分布。方法中国汉族人中收集155例全面性癫痫伴热性惊厥附加症患者和135例正常人标本,采用聚合酶链反应-变性高效液相色谱法检测SCN1A基因的第7编码外显子及与mRNA剪接有关的内含子进行筛查,对发现异常洗脱峰者进行测序并应用SPSS11.5分析结果。结果 135例正常人中,SCN1A Exon7-21C>TCC、CT、TT基因型频率分别为:0.474、0.444、0.082,C、T等位基因频率分别为:0.696、0.304。155例全面性癫痫伴热性惊厥附加症患者中,SCN1AExon7-21C>TCC、CT、TT基因型频率分别为:0.490、0.439、0.071,C、T等位基因频率分别为:0.710、0.290。实验组的基因型频率和等位基因频率与正常对照组比较,差异无统计学意义(P>0.05)。结论 SCN1A基因单核苷酸多态位点Exon7-21C>T与全面性癫痫伴热性惊厥附加症无相关性。
Objective To investigate the distribution of Exon7-21C> T polymorphism loci of SCN1A gene in patients with epilepsy with epilepsy syndrome. Methods A total of 155 Chinese patients with epilepsy with febrile seizures and 135 normal controls were collected from Chinese Han people. The 7th exon of SCN1A gene and its mRNA were detected by polymerase chain reaction - denaturing high performance liquid chromatography. Splicing-related introns were screened, and those who found abnormal elution peaks were sequenced and analyzed using SPSS 11.5. Results The frequencies of SCN1A Exon7-21C> TCC, CT and TT genotypes were 0.474, 0.444 and 0.082, respectively. The frequencies of C and T alleles were 0.696 and 0.304, respectively. Among the 135 normal controls, The frequencies of SCN1AExon7-21C> TCC, CT, TT genotypes were 0.490, 0.439 and 0.071, respectively. The frequencies of C and T alleles were 0.710 and 0.290, respectively. The genotype frequency and allele frequency of the experimental group compared with the normal control group, the difference was not statistically significant (P> 0.05). Conclusion There is no correlation between Exon7-21C> T polymorphism of SCN1A gene and congenital syndrome of generalized epilepsy with febrile seizures.